Author

N. Kamble

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Open access Oct 2026

Generation of a CRISPR/Cas9-corrected isogenic control iPSC line (NIMHi001-A-1) from a Parkinson's disease Patient-Derived iPSC line carrying the LRRK2 I1371V mutation.

We report NIMHi001-A-1, a CRISPR/Cas9-corrected isogenic iPSC line derived from a patient line carrying a heterozygous LRRK2 missense mutation GRCh38 chr12:g.40308618A > G [(MANE transcript NM_198578.4:c.4111A > G); p.Ile1371Val] associated with familial Parkinson's disease. Sanger sequencing confirmed successful corre...

Roon Banerjee, Khushboo Singh, Ujaswini Gogoi et al. · Stem Cell Research · 0 citations

Open access Oct 2026

Genotype-Phenotype Correlations in THAP1-Associated Dystonia: A Multicentric Observational Study.

BACKGROUND DYT-THAP1 is a recognized cause of early-onset isolated dystonia. However, available data are largely derived from European cohorts, limiting understanding of genetic diversity, phenotype variability, and treatment response in underrepresented populations. OBJECTIVES To characterize the clinical spectrum,...

Arti Saini, Kamalesh Tayade, Divya M. Radhakrishnan et al. · Movement Disorders Clinical... · 0 citations

Open access Sep 2026

Sleep Disturbances and Their Correlates in Essential Tremor and Essential Tremor Plus: A Questionnaire-Based Case–Control Study

Background: Essential tremor (ET) has been increasingly recognized to involve non-motor symptoms, including sleep disturbances. Essential Tremor Plus (ET-plus), is characterized by additional neurological “soft signs” and may display greater non-motor symptom burden. Despite emerging evidence from polysomnographic stud...

R. Singh, S. Mythirayee, D. Seshagiri et al. · Tremor and Other Hyperkineti... · 0 citations